Canonical Allele Identifier: CA413007274

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949819A>G , CM000685.2:g.43949819A>G GRCh38
NC_000023.10:g.43809065A>G , CM000685.1:g.43809065A>G GRCh37
NC_000023.9:g.43694009A>G NCBI36
NG_009832.1:g.28857T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.382T>C (NDP) MANE Select ENSP00000495972.1:p.Cys128Arg
ENST00000647044.1:c.382T>C (NDP) ENSP00000495811.1:p.Cys128Arg
ENST00000378062.5:c.382T>C (NDP) ENSP00000367301.5:p.Cys128Arg
ENST00000470584.1:n.426T>C (NDP)
NM_000266.3:c.382T>C (NDP) NP_000257.1:p.Cys128Arg
NR_046631.1:n.88A>G (NDP-AS1)
NM_000266.4:c.382T>C (NDP) MANE Select NP_000257.1:p.Cys128Arg